Cellosaurus cell line BBANTWi008-A (CVCL

Cross-references
Cell line name	BBANTWi008-A
Synonyms	iPSC_PBMC_LDS_SMAD3_T1_C11; iPSC_PBMC_LDS_SMAD3_T1_Clone 11; CMGANTi001-A
Accession	CVCL_B7E0
Resource Identification Initiative	To cite this cell line use: BBANTWi008-A (RRID:CVCL_B7E0)
Comments	From: Biobank Antwerpen; Antwerp; Belgium. Population: Caucasian. Omics: SNP array analysis. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6769; SMAD3; Simple; p.Arg287Gln (c.860G>A); ClinVar=VCV000180524; Zygosity=Heterozygous (PubMed=36219981).
Disease	Loeys-Dietz syndrome type 3 (NCIt: C186786) Loeys-Dietz syndrome (ORDO: Orphanet_60030)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	35Y
Category	Induced pluripotent stem cell
Publications	PubMed=36219981; DOI=10.1016/j.scr.2022.102932 Velchev J.D., Verstraeten A., Meester J.A.N., Ponsaerts P., Richer J., Alaerts M., Loeys B.L. Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz syndrome type 3 patient. Stem Cell Res. 64:102932-102932(2022)
Cell line databases/resources	hPSCreg; BBANTWi008-A
Biological sample resources	BioSamples; SAMEA13601154
Encyclopedic resources	Wikidata; Q112929274
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6